The phenotypic spectrum of the Cornelia de Lange-like “Alazami-Yuan syndrome”: A case report of the 7th diagnosed individual and review of the literature

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Clinical Case Reports Pub Date : 2025-05-02 DOI:10.1002/ccr3.9208

Annie Pappas, Mary Mooney, Katherine Kohnen, Joshua W. Owens, Wenying Zhang, Robert J. Hopkin, Amelle Shillington

引用次数: 0

Abstract

We present a 17-year-old female with a childhood clinical diagnosis of Cornelia de Lange Syndrome (CdLS), however later genetic testing identified compound heterozygous variants in TAF6, consistent with AYS. This case report adds to the phenotypic spectrum observed in AYS, and draws connections to transcriptional pathways between CdLS and AYS.

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兰格样“Alazami-Yuan综合征”的表型谱：第7例确诊病例报告及文献复习

我们报告了一名17岁的女性儿童期临床诊断为Cornelia de Lange综合征（CdLS），然而后来的基因检测发现TAF6的复合杂合变异体，与AYS一致。本病例报告增加了在AYS中观察到的表型谱，并绘制了CdLS和AYS之间的转录途径的联系。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Case Reports MEDICINE, GENERAL & INTERNAL-

自引率

14.30%

发文量

1268

审稿时长

13 weeks

期刊介绍： Clinical Case Reports is different from other case report journals. Our aim is to directly improve global health and increase clinical understanding using case reports to convey important best practice information. We welcome case reports from all areas of Medicine, Nursing, Dentistry, and Veterinary Science and may include: -Any clinical case or procedure which illustrates an important best practice teaching message -Any clinical case or procedure which illustrates the appropriate use of an important clinical guideline or systematic review. As well as: -The management of novel or very uncommon diseases -A common disease presenting in an uncommon way -An uncommon disease masquerading as something more common -Cases which expand understanding of disease pathogenesis -Cases where the teaching point is based on an error -Cases which allow us to re-think established medical lore -Unreported adverse effects of interventions (drug, procedural, or other).